Primary ciliary dyskinesia: review of the draft clinical guidelines, 2022
نویسندگان
چکیده
Primary ciliary dyskinesia (PCD) is a rare hereditary disease from the group of ciliopathies, which based on defect in cilia ultrastructure respiratory epithelium and similar structures (sperm flagella, villi fallopian tubes, ventricular ependyma, etc.), leading to motor function impairment. The prevalence varies significantly around world not known reliably Russian Federation. aim review was analyze literature data modern approaches diagnosis treatment PCD. Methodology. 90 articles opinions experts providing care patients with PCD were used. Results. classic manifestations depend age. are recurrent inflammatory diseases upper lower tract (bronchitis, pneumonia), formation bronchiectasis, damage ENT organs (chronic rhinitis, rhinosinusitis, nasal polyposis, repeated otitis media, progressive hearing loss). Currently, there no single method could serve as “gold” standard for diagnosing characteristic clinical picture combination results special tests (nitric oxide exhaled air, DNA diagnostics, high-speed video microscopy, transmission electron microscopy). genetic diagnostics has been developed sufficiently global practice yet unavailable our country. approach patient should be multidisciplinary due multiple organ lesions. According European consensus, goal therapy restore or maintain normal lung function. There have randomized trials PCD, therefore all recommendations very low-level evidence extrapolated cystic fibrosis guidelines. Recommendations mucolytic, antibacterial anti-inflammatory given consideration international domestic experience. Conclusion. development new version guidelines containing up-to-date relevant information will improve
منابع مشابه
Primary ciliary dyskinesia.
Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects the ciliary function of the respiratory tract, sperm tail, cilia of the embryonic node, and fallopian tube. The condition is characterized by impaired ciliary action, leading to recurrent lower-respiratory-tract infections, bronchiectasis, rhino-sinusitis, otitis media, impaired fertility in women, and infertility in men....
متن کاملPrimary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is caused by ultrastructural ciliary defects that lead to abnormal ciliary beating and, subsequently, mucociliary dysfunction. PCD presents clinically with bronchiectasis, sinusitis, and, in up to 50% of cases, situs inversus. The ultrastructural defects of cilia are diverse but include in many cases outer and/or inner dynein arms. Recent advances have shown tha...
متن کاملPrimary ciliary dyskinesia.
Primary ciliary dyskinesia (PCD) is an inherited condition characterised by functional and/or structural congenital abnormalities of cilia. Presentation is often in the neonatal period, but there are age-related differences in presentation, and diagnosis is often delayed. The usual clinical picture is of recurrent upper and lower respiratory symptoms (rhinitis, glue ear, recurrent cough and spu...
متن کامل[Primary ciliary dyskinesia. Ciliopathies].
Primary ciliary dyskinesia is a genetically inherited syndrome characterized by cilia immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections since birth, male sterility by spermatozoid immotility and situs inversus in 40-50% of patients (Kartagener's syndrome). Diagnosis is made by analyzing cilia motility with high-speed digital video and ciliar ...
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ژورنال
عنوان ژورنال: Pul?monologiâ
سال: 2022
ISSN: ['0869-0189', '2541-9617']
DOI: https://doi.org/10.18093/0869-0189-2022-32-4-517-538